#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AGMAT	79814	broad.mit.edu	37	1	15904246	15904246	+	Silent	SNP	G	G	A	rs148750290	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:15904246G>A	ENST00000375826.3	-	5	976	c.834C>T	c.(832-834)gaC>gaT	p.D278D	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	278					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGAGCGTCAATATCAA	0.532													G|||	36	0.0071885	0.0	0.0	5008	,	,		19844	0.0347		0.0	False		,,,				2504	0.001				NSCLC(126;1678 1780 25805 43508 49531)	uc001awv.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12						c.(832-834)gaC>gaT		Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	123.0	109.0	114.0		834	-8.4	0.2	1	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	AGMAT	NM_024758.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		278/353	15904246	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79814				putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	g.chr1:15904246G>A	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.834C>T	1.37:g.15904246G>A						DNAJC16_uc001awu.3_Intron	p.D278D	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	4	977	-		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	278					Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	c.834C>T	CCDS160.1																																																																																				0.532	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
EPHA8	2046	broad.mit.edu	37	1	22924647	22924647	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:22924647G>A	ENST00000166244.3	+	12	2192	c.2120G>A	c.(2119-2121)cGc>cAc	p.R707H		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCCCAGGCCGCCTGGCAATG	0.622																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2119-2121)cGc>cAc		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							115.0	110.0	112.0					1																	22924647		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924647G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2120G>A	1.37:g.22924647G>A	ENSP00000166244:p.Arg707His						p.R707H	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2245	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	707			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2120G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.679954	0.47886	.	.	ENSG00000070886	ENST00000166244	T	0.62364	0.03	4.59	1.43	0.22495	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.276049	0.29624	N	0.011621	T	0.40570	0.1122	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	B	0.42319	0.383	T	0.26815	-1.0092	10	0.72032	D	0.01	.	3.9469	0.09352	0.185:0.0:0.4256:0.3894	.	707	P29322	EPHA8_HUMAN	H	707	ENSP00000166244:R707H	ENSP00000166244:R707H	R	+	2	0	EPHA8	22797234	1.000000	0.71417	0.945000	0.38365	0.523000	0.34469	2.071000	0.41500	0.098000	0.17522	-0.355000	0.07637	CGC		0.622	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
HTR1D	3352	broad.mit.edu	37	1	23520071	23520071	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:23520071G>A	ENST00000374619.1	-	1	1151	c.642C>T	c.(640-642)atC>atT	p.I214I	HTR1D_ENST00000314113.3_Silent_p.I214I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATATAGGATGATGAGCAACA	0.577																																						uc001bgn.3																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(640-642)atC>atT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						62.0	66.0	65.0					1																	23520071		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520071G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.642C>T	1.37:g.23520071G>A							p.I214I	NM_000864	NP_000855	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	0	1152	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	214						Silent	SNP	ENST00000374619.1	37	c.642C>T	CCDS231.1																																																																																				0.577	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864	
KLHDC9	126823	broad.mit.edu	37	1	161068632	161068632	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161068632C>T	ENST00000368011.4	+	1	449	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	KLHDC9_ENST00000490724.2_3'UTR|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_Missense_Mutation_p.R103C	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	103										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGGGTCTCGCCGCTTGGCCAC	0.726																																						uc001fxr.3																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(307-309)Cgc>Tgc		Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.							9.0	10.0	10.0					1																	161068632		2176	4262	6438	SO:0001583	missense	126823							g.chr1:161068632C>T	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.307C>T	1.37:g.161068632C>T	ENSP00000356990:p.Arg103Cys					KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Missense_Mutation_p.R103C|KLHDC9_uc001fxs.3_Missense_Mutation_p.R103C	p.R103C	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		0	452	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		103					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.307C>T	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678870	0.68042	.	.	ENSG00000162755	ENST00000368011;ENST00000392192	T;T	0.48201	0.82;0.82	4.12	4.12	0.48240	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.48767	D	0.000172	T	0.46249	0.1383	L	0.36672	1.1	0.47341	D	0.999395	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.49744	-0.8907	10	0.66056	D	0.02	-25.1172	9.4931	0.38971	0.2108:0.7892:0.0:0.0	.	103;103	Q8NEP7-2;Q8NEP7	.;KLDC9_HUMAN	C	103	ENSP00000356990:R103C;ENSP00000376030:R103C	ENSP00000356990:R103C	R	+	1	0	KLHDC9	159335256	0.715000	0.27946	0.420000	0.26596	0.943000	0.58893	1.751000	0.38339	2.271000	0.75665	0.467000	0.42956	CGC		0.726	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366	
ADAMTS4	9507	broad.mit.edu	37	1	161165991	161165991	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161165991G>T	ENST00000367996.5	-	3	1488	c.1060C>A	c.(1060-1062)Cag>Aag	p.Q354K	ADAMTS4_ENST00000367995.3_3'UTR|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	354	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	AAGGCTGACTGGAGCCCATCA	0.577																																						uc001fyt.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1060-1062)Cag>Aag		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.							108.0	103.0	104.0					1																	161165991		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161165991G>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1060C>A	1.37:g.161165991G>T	ENSP00000356975:p.Gln354Lys					ADAMTS4_uc001fyu.2_3'UTR	p.Q354K	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1488	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		354			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1060C>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389123	0.82902	.	.	ENSG00000158859	ENST00000367996	D	0.86432	-2.12	5.12	5.12	0.69794	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000011	D	0.87204	0.6119	L	0.59436	1.845	0.80722	D	1	P	0.43633	0.813	P	0.50109	0.631	D	0.87496	0.2430	10	0.51188	T	0.08	.	17.4652	0.87630	0.0:0.0:1.0:0.0	.	354	O75173	ATS4_HUMAN	K	354	ENSP00000356975:Q354K	ENSP00000356975:Q354K	Q	-	1	0	ADAMTS4	159432615	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.656000	0.83736	2.656000	0.90262	0.491000	0.48974	CAG		0.577	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
SLC9C2	284525	broad.mit.edu	37	1	173552735	173552735	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:173552735T>A	ENST00000367714.3	-	6	972	c.550A>T	c.(550-552)Att>Ttt	p.I184F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I82F|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	184					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTCCTCTAATGAGATCAATG	0.328																																						uc001giz.2																			0											c.(550-552)Att>Ttt		Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.							51.0	56.0	54.0					1																	173552735		2201	4293	6494	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552735T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.550A>T	1.37:g.173552735T>A	ENSP00000356687:p.Ile184Phe					SLC9C2_uc010pmq.1_Non-coding_Transcript	p.I184F	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			5	973	-			184					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.550A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.855043	0.32791	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13307	2.6;2.6	5.37	4.22	0.49857	Cation/H+ exchanger (1);	0.229512	0.29668	N	0.011505	T	0.07007	0.0178	L	0.56769	1.78	0.30532	N	0.767329	B	0.34161	0.439	B	0.37422	0.249	T	0.12192	-1.0557	10	0.59425	D	0.04	-25.4382	8.4065	0.32619	0.1743:0.0:0.0:0.8257	.	184	Q5TAH2	S9A11_HUMAN	F	184;82	ENSP00000356687:I184F;ENSP00000445437:I82F	ENSP00000356687:I184F	I	-	1	0	SLC9A11	171819358	0.980000	0.34600	0.966000	0.40874	0.303000	0.27691	1.089000	0.30890	0.843000	0.35070	0.528000	0.53228	ATT		0.328	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
PHLDA3	23612	broad.mit.edu	37	1	201437745	201437745	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:201437745C>T	ENST00000367311.3	-	1	567	c.170G>A	c.(169-171)cGc>cAc	p.R57H	PHLDA3_ENST00000485436.1_5'Flank|PHLDA3_ENST00000367309.1_Missense_Mutation_p.R57H	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	57	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						GGCCTTGATGCGGGCGAAGCT	0.687																																						uc021phf.1																			0				lung(1)|prostate(1)	2						c.(169-171)cGc>cAc		Homo sapiens pleckstrin homology-like domain, family A, member 3 (PHLDA3), mRNA.							36.0	41.0	40.0					1																	201437745		2203	4299	6502	SO:0001583	missense	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437745C>T	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.170G>A	1.37:g.201437745C>T	ENSP00000356280:p.Arg57His					PHLDA3_uc001gwq.3_Missense_Mutation_p.R57H	p.R57H	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN			0	170	-			57			PH.		B2R5A4|Q53HD6|Q8NBW9	Missense_Mutation	SNP	ENST00000367311.3	37	c.170G>A	CCDS1412.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911635	0.52439	.	.	ENSG00000174307	ENST00000367311;ENST00000367309	T;T	0.28895	1.59;1.59	3.75	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.337641	0.29602	U	0.011691	T	0.17109	0.0411	N	0.22421	0.69	0.33084	D	0.537003	B	0.34226	0.443	B	0.28232	0.087	T	0.22173	-1.0224	10	0.25106	T	0.35	-9.3496	9.7757	0.40618	0.0:0.9016:0.0:0.0984	.	57	Q9Y5J5	PHLA3_HUMAN	H	57	ENSP00000356280:R57H;ENSP00000356278:R57H	ENSP00000356278:R57H	R	-	2	0	PHLDA3	199704368	0.974000	0.33945	1.000000	0.80357	0.979000	0.70002	0.467000	0.22035	1.796000	0.52611	0.491000	0.48974	CGC		0.687	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2	NM_012396	
KDM5B	10765	broad.mit.edu	37	1	202718129	202718129	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:202718129C>A	ENST00000367265.3	-	14	3124	c.1960G>T	c.(1960-1962)Gac>Tac	p.D654Y	KDM5B_ENST00000367264.2_Missense_Mutation_p.D690Y	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	654					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATGGCCATGTCTTTCTGAACA	0.403																																						uc009xag.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2068-2070)Gac>Tac		Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.							121.0	114.0	117.0					1																	202718129		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202718129C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1960G>T	1.37:g.202718129C>A	ENSP00000356234:p.Asp654Tyr					KDM5B_uc001gyf.3_Missense_Mutation_p.D654Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y	p.D690Y	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			14	2184	-			654					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2068G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018175	0.93404	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.86865	-2.06;-1.87;-2.18	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.957	D	0.93670	0.6989	10	0.87932	D	0	-27.6402	20.089	0.97809	0.0:1.0:0.0:0.0	.	690;654	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Y	654;496;690;496;23	ENSP00000356234:D654Y;ENSP00000356233:D690Y;ENSP00000235790:D496Y	ENSP00000235790:D496Y	D	-	1	0	KDM5B	200984752	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.760000	0.85248	2.752000	0.94435	0.557000	0.71058	GAC		0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
USH2A	7399	broad.mit.edu	37	1	215972257	215972257	+	Missense_Mutation	SNP	C	C	T	rs140746096		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:215972257C>T	ENST00000307340.3	-	50	10336	c.9950G>A	c.(9949-9951)cGc>cAc	p.R3317H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3317H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3317					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTGGAAGGCGATTGTACAC	0.473										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9949-9951)cGc>cAc		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.		C	HIS/ARG	0,4406		0,0,2203	145.0	124.0	131.0		9950	-0.8	0.0	1	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3317/5203	215972257	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215972257C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9950G>A	1.37:g.215972257C>T	ENSP00000305941:p.Arg3317His	HNSCC(13;0.011)					p.R3317H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	10337	-			3317					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9950G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.456	-0.891248	0.02491	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13196	2.62;2.61	5.8	-0.829	0.10796	Fibronectin, type III (2);	1.988910	0.02519	N	0.092366	T	0.12008	0.0292	L	0.41236	1.265	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.32877	-0.9890	10	0.14252	T	0.57	.	7.9877	0.30222	0.0:0.2642:0.364:0.3718	.	3317	O75445	USH2A_HUMAN	H	3317	ENSP00000305941:R3317H;ENSP00000355910:R3317H	ENSP00000305941:R3317H	R	-	2	0	USH2A	214038880	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.923000	0.04000	-0.438000	0.07232	-0.143000	0.13931	CGC		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
CCDC185	164127	broad.mit.edu	37	1	223568231	223568231	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:223568231C>T	ENST00000366875.3	+	1	1517	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		472										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCGGCAACGCGAGCTGAG	0.607																																						uc001hoa.2																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(1414-1416)Cgc>Tgc		Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.							53.0	58.0	57.0					1																	223568231		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223568231C>T																												ENST00000366875.3:c.1414C>T	1.37:g.223568231C>T	ENSP00000355840:p.Arg472Cys						p.R472C	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	0	1517	+			472					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1414C>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422779	0.43020	.	.	ENSG00000178395	ENST00000366875	T	0.28069	1.63	5.56	0.716	0.18191	.	.	.	.	.	T	0.49575	0.1565	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.65773	0.938	T	0.47873	-0.9083	9	0.87932	D	0	.	13.9383	0.64039	0.5939:0.4061:0.0:0.0	.	472	Q8N715	CA065_HUMAN	C	472	ENSP00000355840:R472C	ENSP00000355840:R472C	R	+	1	0	C1orf65	221634854	0.022000	0.18835	0.000000	0.03702	0.503000	0.33858	0.416000	0.21198	0.227000	0.20999	0.655000	0.94253	CGC		0.607	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1		
RYR2	6262	broad.mit.edu	37	1	237863751	237863751	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:237863751C>T	ENST00000366574.2	+	65	9668	c.9351C>T	c.(9349-9351)ttC>ttT	p.F3117F	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.F3115F|RYR2_ENST00000542537.1_Silent_p.F3101F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3117					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCATCAGTTCGGAGAAGACC	0.373																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9349-9351)ttC>ttT		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							40.0	38.0	38.0					1																	237863751		1853	4095	5948	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237863751C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9351C>T	1.37:g.237863751C>T						RYR2_uc010pxz.1_Silent_p.F72F	p.F3117F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		64	9471	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3117					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9351C>T	CCDS55691.1																																																																																				0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
NLRP3	114548	broad.mit.edu	37	1	247587925	247587925	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:247587925G>T	ENST00000336119.3	+	3	1926	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	NLRP3_ENST00000391828.3_Missense_Mutation_p.A394S|NLRP3_ENST00000391827.2_Missense_Mutation_p.A394S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A394S|NLRP3_ENST00000348069.2_Missense_Mutation_p.A394S|NLRP3_ENST00000366497.2_Missense_Mutation_p.A394S	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	394	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCAAGCCAGGGCAGCCTTCAG	0.537																																						uc001icr.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1180-1182)Gca>Tca		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							83.0	67.0	73.0					1																	247587925		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587925G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1180G>T	1.37:g.247587925G>T	ENSP00000337383:p.Ala394Ser					NLRP3_uc001ics.3_Missense_Mutation_p.A394S|NLRP3_uc001icu.3_Missense_Mutation_p.A394S|NLRP3_uc001icw.3_Missense_Mutation_p.A394S|NLRP3_uc001icv.3_Missense_Mutation_p.A394S|NLRP3_uc010pyw.2_Missense_Mutation_p.A392S|NLRP3_uc001ict.1_Missense_Mutation_p.A392S	p.A394S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1318	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	394			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1180G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	6.559	0.471354	0.12461	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.73897	-0.7;-0.72;-0.7;-0.79;-0.72;-0.75	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.265595	0.27636	N	0.018500	T	0.58090	0.2098	N	0.12961	0.28	0.09310	N	1	B;B;B;B;B	0.24963	0.02;0.041;0.115;0.012;0.015	B;B;B;B;B	0.27608	0.022;0.081;0.062;0.026;0.011	T	0.52931	-0.8509	10	0.41790	T	0.15	.	12.2773	0.54744	0.0:0.0:1.0:0.0	.	394;394;394;394;394	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	S	394	ENSP00000375704:A394S;ENSP00000355453:A394S;ENSP00000337383:A394S;ENSP00000294752:A394S;ENSP00000355452:A394S;ENSP00000375703:A394S	ENSP00000337383:A394S	A	+	1	0	NLRP3	245654548	0.000000	0.05858	0.061000	0.19648	0.075000	0.17131	0.592000	0.23984	2.612000	0.88384	0.655000	0.94253	GCA		0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
OIT3	170392	broad.mit.edu	37	10	74666378	74666378	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:74666378A>G	ENST00000334011.5	+	4	787	c.569A>G	c.(568-570)aAc>aGc	p.N190S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	190	EGF-like; calcium-binding. {ECO:0000255}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGCAAAACAACGGTGGCTGC	0.488																																					Colon(7;19 345 13446 17537)	uc001jte.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(568-570)aAc>aGc		Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.							213.0	196.0	202.0					10																	74666378		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74666378A>G		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.569A>G	10.37:g.74666378A>G	ENSP00000333900:p.Asn190Ser					OIT3_uc009xqs.1_Non-coding_Transcript	p.N190S	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			3	787	+	Prostate(51;0.0198)		190			EGF-like; calcium-binding (Potential).		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.569A>G	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032602	0.19590	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.98493	-4.96	5.48	5.48	0.80851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.64402	D	0.000007	D	0.98416	0.9473	L	0.59912	1.85	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.98683	1.0693	10	0.34782	T	0.22	-26.4572	15.6059	0.76672	1.0:0.0:0.0:0.0	.	190	Q8WWZ8	OIT3_HUMAN	S	190	ENSP00000333900:N190S	ENSP00000333900:N190S	N	+	2	0	OIT3	74336384	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.058000	0.89460	2.081000	0.62600	0.533000	0.62120	AAC		0.488	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
EBF3	253738	broad.mit.edu	37	10	131640486	131640486	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:131640486G>C	ENST00000355311.5	-	13	1338	c.1266C>G	c.(1264-1266)atC>atG	p.I422M	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.I413M			Q9H4W6	COE3_HUMAN	early B-cell factor 3	422					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCAGGGTGGGGATCTGGTTGT	0.617																																						uc021qav.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1195-1197)atC>atG		Homo sapiens early B-cell factor 3 (EBF3), mRNA.							242.0	198.0	213.0					10																	131640486		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640486G>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1266C>G	10.37:g.131640486G>C	ENSP00000347463:p.Ile422Met					EBF3_uc001lki.2_Missense_Mutation_p.I413M	p.I399M	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	12	1298	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	422					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1197C>G		.	.	.	.	.	.	.	.	.	.	G	14.73	2.621394	0.46736	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.48201	0.82;0.82	5.54	-2.69	0.06022	.	0.069593	0.85682	D	0.000000	T	0.35480	0.0933	L	0.40543	1.245	0.44899	D	0.997912	B	0.31209	0.313	B	0.38378	0.272	T	0.05354	-1.0890	10	0.42905	T	0.14	-24.0753	7.1309	0.25499	0.1733:0.0:0.3855:0.4412	.	413	Q9H4W6-2	.	M	422;413	ENSP00000347463:I422M;ENSP00000357637:I413M	ENSP00000347463:I422M	I	-	3	3	EBF3	131530476	0.993000	0.37304	0.980000	0.43619	0.982000	0.71751	0.319000	0.19522	-0.411000	0.07530	-0.974000	0.02594	ATC		0.617	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	
OR52J3	119679	broad.mit.edu	37	11	5068212	5068212	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:5068212C>T	ENST00000380370.1	+	1	457	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGTAATTCGTCCCGTTTT	0.468																																						uc010qyv.2																			0				NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(457-459)Cgt>Tgt		Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.							195.0	129.0	151.0					11																	5068212		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068212C>T	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.457C>T	11.37:g.5068212C>T	ENSP00000369728:p.Arg153Cys						p.R153C	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	457	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	153					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.457C>T	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	3.327	-0.137503	0.06711	.	.	ENSG00000205495	ENST00000380370	T	0.37235	1.21	4.19	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.594848	0.15011	N	0.285528	T	0.45357	0.1338	H	0.94306	3.52	0.09310	N	0.999999	B	0.20052	0.041	B	0.18561	0.022	T	0.51498	-0.8698	10	0.72032	D	0.01	.	4.538	0.12043	0.1743:0.6348:0.0:0.1909	.	153	Q8NH60	O52J3_HUMAN	C	153	ENSP00000369728:R153C	ENSP00000369728:R153C	R	+	1	0	OR52J3	5024788	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	-3.580000	0.00424	0.082000	0.17018	-0.136000	0.14681	CGT		0.468	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916	
SLC5A12	159963	broad.mit.edu	37	11	26718717	26718717	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:26718717G>A	ENST00000396005.3	-	8	1343	c.1034C>T	c.(1033-1035)aCt>aTt	p.T345I	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T345I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	345					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAACCTCAGAGTTCCACTGAA	0.438																																						uc001mra.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1033-1035)aCt>aTt		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.							137.0	124.0	129.0					11																	26718717		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26718717G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1034C>T	11.37:g.26718717G>A	ENSP00000379326:p.Thr345Ile					SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.T345I	p.T345I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			7	1347	-			345					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1034C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	33	5.237443	0.95240	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.84223	-1.82;-1.82	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.92077	3.27	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	D;D	0.91635	0.987;0.999	D	0.95121	0.8246	10	0.87932	D	0	.	20.1726	0.98160	0.0:0.0:1.0:0.0	.	345;345	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	I	345	ENSP00000379326:T345I;ENSP00000280467:T345I	ENSP00000280467:T345I	T	-	2	0	SLC5A12	26675293	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.627000	0.98412	2.763000	0.94921	0.650000	0.86243	ACT		0.438	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
PYGM	5837	broad.mit.edu	37	11	64521011	64521011	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:64521011G>A	ENST00000164139.3	-	11	1781	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.S373S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	461					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAGGATCTCGGAGTGGATGC	0.652																																						uc001oax.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1381-1383)tcC>tcT		Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	Pyridoxal Phosphate(DB00114)						52.0	29.0	37.0					11																	64521011		2196	4295	6491	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521011G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1383C>T	11.37:g.64521011G>A						PYGM_uc001oay.4_Silent_p.S373S	p.S461S	NM_005609	NP_005600	P11217	PYGM_HUMAN			10	2200	-			461					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1383C>T	CCDS8079.1																																																																																				0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609	
GPR83	10888	broad.mit.edu	37	11	94113625	94113625	+	Missense_Mutation	SNP	C	C	T	rs145628763	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:94113625C>T	ENST00000243673.2	-	4	1133	c.962G>A	c.(961-963)cGc>cAc	p.R321H	GPR83_ENST00000539203.2_Missense_Mutation_p.R279H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	321					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGTTGGTGCGGATGACCTT	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		21668	0.001		0.0	False		,,,				2504	0.001					uc001pet.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(961-963)cGc>cAc		Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.							156.0	124.0	135.0					11																	94113625		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113625C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.962G>A	11.37:g.94113625C>T	ENSP00000243673:p.Arg321His						p.R321H	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			3	1134	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	321					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.962G>A	CCDS8297.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.42	1.632573	0.29068	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.55930	0.49;0.49	5.75	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	0.577740	0.21375	N	0.075569	T	0.27098	0.0664	N	0.13198	0.31	0.34738	D	0.730436	B	0.02656	0.0	B	0.06405	0.002	T	0.09952	-1.0651	10	0.22706	T	0.39	.	8.1338	0.31043	0.0:0.6896:0.1009:0.2095	.	321	Q9NYM4	GPR83_HUMAN	H	321;279	ENSP00000243673:R321H;ENSP00000441550:R279H	ENSP00000243673:R321H	R	-	2	0	GPR83	93753273	0.613000	0.27009	0.936000	0.37596	0.997000	0.91878	-0.078000	0.11375	-0.929000	0.03757	0.655000	0.94253	CGC		0.517	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540	
KIAA1377	57562	broad.mit.edu	37	11	101793446	101793446	+	Missense_Mutation	SNP	G	G	A	rs142032267	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:101793446G>A	ENST00000263468.8	+	2	473	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	68								p.R68L(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303																																						uc001pgm.3																			1	Substitution - Missense(1)	p.R68L(2)|p.R68*(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(202-204)cGa>cAa		Homo sapiens KIAA1377 (KIAA1377), mRNA.		G	GLN/ARG	0,4406		0,0,2203	67.0	70.0	69.0		203	5.8	1.0	11	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIAA1377	NM_020802.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	68/1118	101793446	1,13003	2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101793446G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.203G>A	11.37:g.101793446G>A	ENSP00000263468:p.Arg68Gln					KIAA1377_uc001pgn.3_Missense_Mutation_p.R24Q	p.R68Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	1	473	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	68					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.203G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945729	0.92593	0.0	1.16E-4	ENSG00000110318	ENST00000263468	T	0.12361	2.69	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000056	T	0.38241	0.1033	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03728	-1.1009	10	0.87932	D	0	-11.1498	17.6233	0.88088	0.0:0.0:1.0:0.0	.	68	Q9P2H0	K1377_HUMAN	Q	68	ENSP00000263468:R68Q	ENSP00000263468:R68Q	R	+	2	0	KIAA1377	101298656	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.645000	0.67909	2.758000	0.94735	0.591000	0.81541	CGA		0.303	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
GRIN2B	2904	broad.mit.edu	37	12	13716353	13716353	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:13716353C>T	ENST00000609686.1	-	13	4028	c.3819G>A	c.(3817-3819)acG>acA	p.T1273T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1273					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGCGTTTGACGTCACCGCCA	0.582																																						uc001rbt.2																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3817-3819)acG>acA		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						65.0	72.0	70.0					12																	13716353		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716353C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3819G>A	12.37:g.13716353C>T							p.T1273T	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	3998	-			1273					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3819G>A	CCDS8662.1																																																																																				0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
EPYC	1833	broad.mit.edu	37	12	91363838	91363838	+	Nonsense_Mutation	SNP	G	G	A	rs374036301		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:91363838G>A	ENST00000261172.3	-	6	873	c.781C>T	c.(781-783)Cga>Tga	p.R261*		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	261					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.R261G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGAAGGGCTCGTAGATTTTCT	0.478																																						uc001tbk.3																			1	Substitution - Missense(1)	p.R261G(2)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(781-783)Cga>Tga		Homo sapiens epiphycan (EPYC), mRNA.		G	stop/ARG	0,4406		0,0,2203	210.0	212.0	211.0		781	3.4	0.0	12		211	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	EPYC	NM_004950.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		261/323	91363838	1,13005	2203	4300	6503	SO:0001587	stop_gained	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91363838G>A	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.781C>T	12.37:g.91363838G>A	ENSP00000261172:p.Arg261*						p.R261*	NM_004950	NP_004941	Q99645	EPYC_HUMAN			5	874	-			261					A8K3M7|Q8NEJ5	Nonsense_Mutation	SNP	ENST00000261172.3	37	c.781C>T	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413611	0.62511	0.0	1.16E-4	ENSG00000083782	ENST00000261172	.	.	.	5.33	3.44	0.39384	.	0.279542	0.37053	N	0.002274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3393	0.66614	0.0:0.0:0.7301:0.2699	.	.	.	.	X	261	.	ENSP00000261172:R261X	R	-	1	2	EPYC	89887969	0.690000	0.27699	0.007000	0.13788	0.271000	0.26615	3.984000	0.56923	0.582000	0.29556	0.467000	0.42956	CGA		0.478	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950	
NR1H4	9971	broad.mit.edu	37	12	100897255	100897255	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:100897255G>T	ENST00000551379.1	+	1	118	c.90G>T	c.(88-90)atG>atT	p.M30I	NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Intron|NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000188403.7_Missense_Mutation_p.M30I			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	30					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TGGAAATGATGAGTATGAAGC	0.453																																						uc001tht.2																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(88-90)atG>atT		Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.							40.0	37.0	38.0					12																	100897255		876	1991	2867	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100897255G>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.90G>T	12.37:g.100897255G>T	ENSP00000447149:p.Met30Ile					NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.M30I	p.M30I	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN			0	118	+			30					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.90G>T	CCDS55876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.389|9.389	1.074972|1.074972	0.20227|0.20227	.|.	.|.	ENSG00000012504|ENSG00000012504	ENST00000551184|ENST00000551379;ENST00000188403	.|D;D	.|0.91237	.|-2.81;-2.76	5.75|5.75	2.52|2.52	0.30459|0.30459	.|.	.|0.549118	.|0.23312	.|N	.|0.049556	.|T	.|0.74351	.|0.3705	N|N	0.08118|0.08118	0|0	0.24729|0.24729	N|N	0.993106|0.993106	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	.|T	.|0.58205	.|-0.7677	.|10	.|0.15952	.|T	.|0.53	.|.	3.4482|3.4482	0.07488|0.07488	0.0828:0.1343:0.4224:0.3605|0.0828:0.1343:0.4224:0.3605	.|.	.|30;30	.|Q96RI1;Q96RI1-4	.|NR1H4_HUMAN;.	X|I	9|30	.|ENSP00000447149:M30I;ENSP00000188403:M30I	.|ENSP00000188403:M30I	E|M	+|+	1|3	0|0	NR1H4|NR1H4	99421386|99421386	0.996000|0.996000	0.38824|0.38824	0.775000|0.775000	0.31657|0.31657	0.004000|0.004000	0.04260|0.04260	0.451000|0.451000	0.21779|0.21779	0.901000|0.901000	0.36495|0.36495	-0.158000|-0.158000	0.13435|0.13435	GAG|ATG		0.453	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	
DAO	1610	broad.mit.edu	37	12	109293186	109293186	+	Missense_Mutation	SNP	C	C	T	rs140015394		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:109293186C>T	ENST00000228476.3	+	10	1051	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	DAO_ENST00000551281.1_Missense_Mutation_p.R217W	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	283					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AACTGGCTTCCGGCCAGTACG	0.458																																						uc001tnr.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(847-849)Cgg>Tgg		Homo sapiens D-amino-acid oxidase (DAO), mRNA.		A	TRP/ARG	0,4406		0,0,2203	38.0	33.0	35.0		847	2.3	1.0	12	dbSNP_134	35	1,8599		0,1,4299	no	missense	DAO	NM_001917.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	283/348	109293186	1,13005	2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109293186C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.847C>T	12.37:g.109293186C>T	ENSP00000228476:p.Arg283Trp					DAO_uc001tnq.4_Missense_Mutation_p.R217W|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	p.R283W	NM_001917	NP_001908	P14920	OXDA_HUMAN			9	1518	+			283					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.847C>T	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	a	18.24	3.579899	0.65992	0.0	1.16E-4	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	D;D;D	0.93811	-3.29;-3.29;-3.29	5.14	2.29	0.28610	FAD dependent oxidoreductase (1);	0.047393	0.85682	D	0.000000	D	0.97192	0.9082	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95062	0.8196	10	0.87932	D	0	-33.3483	6.6441	0.22925	0.4576:0.4592:0.0:0.0832	.	283;266	P14920;Q7Z312	OXDA_HUMAN;.	W	217;283;160	ENSP00000446853:R217W;ENSP00000228476:R283W;ENSP00000449967:R160W	ENSP00000228476:R283W	R	+	1	2	DAO	107817315	0.945000	0.32115	0.970000	0.41538	0.004000	0.04260	0.933000	0.28897	0.196000	0.20367	-1.260000	0.01463	CGG		0.458	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
RPGRIP1	57096	broad.mit.edu	37	14	21793505	21793505	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr14:21793505C>A	ENST00000400017.2	+	15	2330	c.2330C>A	c.(2329-2331)aCc>aAc	p.T777N	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.T136N|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.T739N|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.T777N|RPGRIP1_ENST00000382933.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	777					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TACCTGTCAACCGATGTGCTT	0.542																																						uc001wag.3																			0		p.S777P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2329-2331)aCc>aAc		Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.							31.0	32.0	31.0					14																	21793505		1878	4110	5988	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21793505C>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2330C>A	14.37:g.21793505C>A	ENSP00000382895:p.Thr777Asn					RPGRIP1_uc001wah.3_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.3_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.3_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.3_Missense_Mutation_p.T94N	p.T777N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	2330	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	777					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2330C>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138962	0.37728	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	T;T;T;T;T	0.78816	-0.89;-0.92;-0.92;-1.21;-1.21	5.08	3.23	0.37069	.	0.660669	0.15089	N	0.281177	T	0.67951	0.2948	N	0.19112	0.55	0.23036	N	0.998394	P;P;P;P;P	0.42692	0.61;0.787;0.61;0.61;0.627	B;P;B;B;B	0.46585	0.346;0.521;0.346;0.346;0.133	T	0.58956	-0.7544	10	0.66056	D	0.02	-0.1738	7.2665	0.26232	0.1692:0.7399:0.0:0.0909	.	160;136;252;393;777	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	N	739;777;777;252;136	ENSP00000451219:T739N;ENSP00000382895:T777N;ENSP00000206660:T777N;ENSP00000451262:T252N;ENSP00000309721:T136N	ENSP00000206660:T777N	T	+	2	0	RPGRIP1	20863345	0.001000	0.12720	0.877000	0.34402	0.902000	0.53008	0.991000	0.29654	0.694000	0.31654	0.655000	0.94253	ACC		0.542	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
LOXL1	4016	broad.mit.edu	37	15	74238821	74238821	+	Silent	SNP	C	C	T	rs368632424		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr15:74238821C>T	ENST00000261921.7	+	3	1601	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	425	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCCCCAGCGCGTGAAGAACC	0.692																																						uc002awc.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1273-1275)cgC>cgT		Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.		C		0,4396		0,0,2198	42.0	32.0	35.0		1275	-8.4	0.2	15		35	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	LOXL1	NM_005576.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		425/575	74238821	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74238821C>T	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1275C>T	15.37:g.74238821C>T							p.R425R	NM_005576	NP_005567	Q08397	LOXL1_HUMAN			2	1611	+			425			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	c.1275C>T	CCDS10253.1																																																																																				0.692	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.3																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(523-525)Ggc>Agc		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.G175S							8	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
USP6	9098	broad.mit.edu	37	17	5050405	5050405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:5050405C>T	ENST00000574788.1	+	29	4577	c.2347C>T	c.(2347-2349)Caa>Taa	p.Q783*	USP6_ENST00000250066.6_Nonsense_Mutation_p.Q783*|USP6_ENST00000304328.5_Nonsense_Mutation_p.Q466*|USP6_ENST00000332776.4_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	783	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAAAAAGTACAACTCTCAGT	0.383			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(2347-2349)Caa>Taa		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							164.0	149.0	154.0					17																	5050405		2203	4300	6503	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5050405C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2347C>T	17.37:g.5050405C>T	ENSP00000460380:p.Gln783*					USP6_uc002gav.1_Nonsense_Mutation_p.Q783*|USP6_uc010ckz.1_Nonsense_Mutation_p.Q466*	p.Q783*	NM_004505	NP_004496	P35125	UBP6_HUMAN			28	4577	+			783					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.2347C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	50	16.875483	0.99874	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.5	2.5	0.30297	.	0.171732	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	10.7323	0.46104	0.0:1.0:0.0:0.0	.	.	.	.	X	783;466	.	ENSP00000250066:Q783X	Q	+	1	0	USP6	4991129	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	4.538000	0.60650	1.389000	0.46526	0.184000	0.17185	CAA		0.383	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
MYO1D	4642	broad.mit.edu	37	17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:31105570G>A	ENST00000318217.5	-	3	630	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_ENST00000579584.1_Missense_Mutation_p.T109M|MYO1D_ENST00000394649.4_Missense_Mutation_p.T21M|MYO1D_ENST00000583621.1_Missense_Mutation_p.T109M	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	109	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393																																						uc002hho.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(325-327)aCg>aTg		Homo sapiens myosin ID (MYO1D), mRNA.							147.0	129.0	135.0					17																	31105570		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31105570G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.326C>T	17.37:g.31105570G>A	ENSP00000324527:p.Thr109Met					MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		2	338	-			109			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.326C>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879761	0.91740	.	.	ENSG00000176658	ENST00000318217	D	0.83837	-1.77	5.2	5.2	0.72013	Myosin head, motor domain (3);	0.000000	0.40640	U	0.001050	D	0.95182	0.8438	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96781	0.9575	10	0.87932	D	0	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	20;109	Q7Z3N6;O94832	.;MYO1D_HUMAN	M	109	ENSP00000324527:T109M	ENSP00000324527:T109M	T	-	2	0	MYO1D	28129683	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.596000	0.98267	2.861000	0.98227	0.655000	0.94253	ACG		0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
MYO19	80179	broad.mit.edu	37	17	34856982	34856982	+	Missense_Mutation	SNP	G	G	A	rs368587558		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:34856982G>A	ENST00000431794.3	-	22	2696	c.2174C>T	c.(2173-2175)aCt>aTt	p.T725I	MYO19_ENST00000268852.9_Missense_Mutation_p.T525I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	725	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGAGTCACCAGTTATGGCTGC	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21346	0.0		0.0	False		,,,				2504	0.0					uc010wcy.2																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2173-2175)aCt>aTt		Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.		G	ILE/THR,ILE/THR	4,4262		0,4,2129	94.0	100.0	98.0		2174,1574	-0.4	0.0	17		98	0,8474		0,0,4237	no	missense,missense	MYO19	NM_001163735.1,NM_025109.5	89,89	0,4,6366	AA,AG,GG		0.0,0.0938,0.0314	benign,benign	725/971,525/771	34856982	4,12736	2133	4237	6370	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34856982G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2174C>T	17.37:g.34856982G>A	ENSP00000409936:p.Thr725Ile					MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.T525I	p.T725I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	22	3166	-		Breast(25;0.00957)|Ovarian(249;0.17)	725					Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.2174C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310070	0.23821	9.38E-4	0.0	ENSG00000141140	ENST00000431794;ENST00000268852	T;T	0.63913	-0.07;-0.07	4.47	-0.417	0.12347	Myosin head, motor domain (1);	1.312750	0.05649	N	0.584926	T	0.37679	0.1012	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.09377	0.004;0.004	T	0.30327	-0.9982	10	0.87932	D	0	.	1.7544	0.02979	0.2036:0.1597:0.474:0.1627	.	725;525	Q96H55;Q96H55-4	MYO19_HUMAN;.	I	725;525	ENSP00000409936:T725I;ENSP00000268852:T525I	ENSP00000268852:T525I	T	-	2	0	MYO19	31931095	0.001000	0.12720	0.000000	0.03702	0.129000	0.20672	0.349000	0.20055	0.032000	0.15435	0.462000	0.41574	ACT		0.577	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	
TANC2	26115	broad.mit.edu	37	17	61428697	61428697	+	Missense_Mutation	SNP	A	A	G	rs372829353		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:61428697A>G	ENST00000424789.2	+	11	1676	c.1672A>G	c.(1672-1674)Att>Gtt	p.I558V	TANC2_ENST00000389520.4_Missense_Mutation_p.I558V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	558					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGGGATACAATTGTATCGTT	0.338																																						uc002jal.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1672-1674)Att>Gtt		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.		A	VAL/ILE	1,3637		0,1,1818	103.0	105.0	105.0		1672	5.6	1.0	17		105	0,8158		0,0,4079	no	missense	TANC2	NM_025185.3	29	0,1,5897	GG,GA,AA		0.0,0.0275,0.0085	benign	558/1991	61428697	1,11795	1819	4079	5898	SO:0001583	missense	26115						binding	g.chr17:61428697A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1672A>G	17.37:g.61428697A>G	ENSP00000387593:p.Ile558Val					TANC2_uc010wpe.2_Missense_Mutation_p.I468V	p.I558V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			10	1695	+			558					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1672A>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495714	0.44352	2.75E-4	0.0	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.19938	2.11;2.11	5.61	5.61	0.85477	.	0.051861	0.85682	D	0.000000	T	0.20047	0.0482	L	0.52126	1.63	0.51233	D	0.999919	B;B	0.30914	0.3;0.07	B;B	0.31390	0.129;0.036	T	0.04128	-1.0975	10	0.31617	T	0.26	.	10.2041	0.43103	0.9261:0.0:0.0739:0.0	.	558;558	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	V	558	ENSP00000374171:I558V;ENSP00000387593:I558V	ENSP00000374171:I558V	I	+	1	0	TANC2	58782429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.546000	0.60705	2.136000	0.66102	0.455000	0.32223	ATT		0.338	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
PTPRM	5797	broad.mit.edu	37	18	7888125	7888125	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr18:7888125C>A	ENST00000332175.8	+	3	1255	c.218C>A	c.(217-219)gCc>gAc	p.A73D	PTPRM_ENST00000400053.4_Missense_Mutation_p.A11D|PTPRM_ENST00000400060.4_Missense_Mutation_p.A73D|PTPRM_ENST00000580170.1_Missense_Mutation_p.A73D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	73	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGTGAATGCCTCTGGGAGA	0.453																																						uc002knn.4																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(217-219)gCc>gAc		Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.							187.0	196.0	193.0					18																	7888125		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888125C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.218C>A	18.37:g.7888125C>A	ENSP00000331418:p.Ala73Asp					PTPRM_uc010dkv.3_Missense_Mutation_p.A73D	p.A73D	NM_002845	NP_002836	P28827	PTPRM_HUMAN			2	721	+		Colorectal(10;0.234)	73			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.218C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600205	0.66332	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02369	4.32;4.32;4.32	5.73	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.217310	0.47093	D	0.000252	T	0.06554	0.0168	L	0.58810	1.83	0.80722	D	1	B;B	0.28026	0.198;0.198	B;B	0.34138	0.176;0.176	T	0.12811	-1.0533	10	0.87932	D	0	.	16.5728	0.84629	0.0:0.8694:0.1306:0.0	.	73;73	A7MBN1;P28827	.;PTPRM_HUMAN	D	73;73;11	ENSP00000331418:A73D;ENSP00000382933:A73D;ENSP00000382927:A11D	ENSP00000331418:A73D	A	+	2	0	PTPRM	7878125	0.931000	0.31567	0.890000	0.34922	0.979000	0.70002	6.133000	0.71682	1.391000	0.46566	0.655000	0.94253	GCC		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
MUC16	94025	broad.mit.edu	37	19	9087832	9087832	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:9087832G>A	ENST00000397910.4	-	1	4186	c.3983C>T	c.(3982-3984)aCg>aTg	p.T1328M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTAGGATCCGTAGTGGTGAT	0.527																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3982-3984)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							146.0	146.0	146.0					19																	9087832		2155	4261	6416	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087832G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3983C>T	19.37:g.9087832G>A	ENSP00000381008:p.Thr1328Met						p.T1328M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	4187	-			1328			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3983C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.134	-0.177769	0.06380	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.48	-1.62	0.08372	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	D	0.63880	0.993	B	0.41860	0.368	T	0.47971	-0.9075	8	0.87932	D	0	.	4.5325	0.12011	0.4408:0.0:0.5592:0.0	.	1328	B5ME49	.	M	1328	ENSP00000381008:T1328M	ENSP00000381008:T1328M	T	-	2	0	MUC16	8948832	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-1.028000	0.03589	-0.343000	0.08351	0.305000	0.20034	ACG		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
RAB3D	9545	broad.mit.edu	37	19	11448018	11448018	+	Missense_Mutation	SNP	C	C	T	rs144965675		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:11448018C>T	ENST00000222120.3	-	2	318	c.58G>A	c.(58-60)Gac>Aac	p.D20N	RAB3D_ENST00000589655.1_Missense_Mutation_p.D20N	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	20					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AACATATAGTCGAAGTTCTGA	0.557																																						uc002mqx.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(58-60)Gac>Aac		Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.							259.0	207.0	225.0					19																	11448018		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11448018C>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.58G>A	19.37:g.11448018C>T	ENSP00000222120:p.Asp20Asn						p.D20N	NM_004283	NP_004274	O95716	RAB3D_HUMAN			1	319	-			20						Missense_Mutation	SNP	ENST00000222120.3	37	c.58G>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189941	0.94923	.	.	ENSG00000105514	ENST00000222120	T	0.80304	-1.36	4.36	4.36	0.52297	.	0.045304	0.85682	D	0.000000	D	0.84042	0.5385	L	0.38692	1.165	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	D	0.86258	0.1653	10	0.87932	D	0	.	16.1598	0.81693	0.0:1.0:0.0:0.0	.	20	O95716	RAB3D_HUMAN	N	20	ENSP00000222120:D20N	ENSP00000222120:D20N	D	-	1	0	RAB3D	11309018	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.590000	0.82653	2.423000	0.82170	0.591000	0.81541	GAC		0.557	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283	
OR10H2	26538	broad.mit.edu	37	19	15839588	15839589	+	Frame_Shift_Ins	INS	-	-	CTTATTGTGG			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:15839588_15839589insCTTATTGTGG	ENST00000305899.3	+	1	755_756	c.735_736insCTTATTGTGG	c.(736-738)cttfs	p.-246fs		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGCCTCTCACCTTATTGTGGT	0.54																																						uc002nbm.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(733-738)caccttfs		Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.																																				SO:0001589	frameshift_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839588_15839589insCTTATTGTGG	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.736_745dupCTTATTGTGG	19.37:g.15839589_15839598dupCTTATTGTGG	ENSP00000306095:p.Leu246fs						p.H245fs	NM_013939	NP_039227	O60403	O10H2_HUMAN			0	755_756	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		245					Q6IFQ1|Q96R58	Frame_Shift_Ins	INS	ENST00000305899.3	37	c.735_736insCTTATTGTGG	CCDS12333.1																																																																																				0.540	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1		
ZNF91	7644	broad.mit.edu	37	19	23543307	23543307	+	Missense_Mutation	SNP	G	G	C	rs547841465	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:23543307G>C	ENST00000300619.7	-	4	2679	c.2474C>G	c.(2473-2475)cCc>cGc	p.P825R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793R|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	825					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403																																						uc002nre.3																			0											c.(2473-2475)cCc>cGc		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							61.0	64.0	63.0					19																	23543307		2161	4274	6435	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543307G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2474C>G	19.37:g.23543307G>C	ENSP00000300619:p.Pro825Arg					ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P793R	p.P825R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	2587	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	825					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2474C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580917	0.46006	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17213	2.29;2.29	1.53	1.53	0.23141	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34571	0.0902	M	0.64404	1.975	0.36831	D	0.886892	D;D	0.76494	0.999;0.967	D;P	0.76071	0.987;0.847	T	0.39121	-0.9629	9	0.87932	D	0	.	9.9652	0.41721	0.0:0.0:1.0:0.0	.	793;825	Q05481-2;Q05481	.;ZNF91_HUMAN	R	825;793	ENSP00000300619:P825R;ENSP00000380272:P793R	ENSP00000300619:P825R	P	-	2	0	ZNF91	23335147	0.829000	0.29322	0.057000	0.19452	0.095000	0.18619	2.924000	0.48876	0.811000	0.34303	0.205000	0.17691	CCC		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
C5AR1	728	broad.mit.edu	37	19	47823716	47823716	+	Missense_Mutation	SNP	C	C	T	rs146163744		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:47823716C>T	ENST00000355085.3	+	2	704	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	228					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.R228R(1)|p.R228W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CATCCTGCTCCGGACGTGGAG	0.612																																						uc002pgj.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R228R(2)|p.R228W(2)	large_intestine(1)|lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(682-684)Cgg>Tgg		Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.		C	TRP/ARG	0,4406		0,0,2203	90.0	91.0	90.0		682	3.8	0.5	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5AR1	NM_001736.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	228/351	47823716	1,13005	2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823716C>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.682C>T	19.37:g.47823716C>T	ENSP00000347197:p.Arg228Trp						p.R228W	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	1	731	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	228						Missense_Mutation	SNP	ENST00000355085.3	37	c.682C>T	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	c	18.81	3.703137	0.68501	0.0	1.16E-4	ENSG00000197405	ENST00000355085	T	0.38240	1.15	4.96	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.300687	0.28958	U	0.013589	T	0.51109	0.1655	M	0.93150	3.385	0.31226	N	0.696887	P	0.49862	0.929	B	0.44044	0.439	T	0.69577	-0.5108	10	0.87932	D	0	.	11.323	0.49433	0.1818:0.8182:0.0:0.0	.	228	P21730	C5AR_HUMAN	W	228	ENSP00000347197:R228W	ENSP00000347197:R228W	R	+	1	2	C5AR1	52515556	0.000000	0.05858	0.522000	0.27862	0.827000	0.46813	0.307000	0.19296	2.280000	0.76307	0.472000	0.43445	CGG		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736	
KCNS3	3790	broad.mit.edu	37	2	18112318	18112318	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:18112318G>A	ENST00000403915.1	+	3	494	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	KCNS3_ENST00000304101.4_Missense_Mutation_p.E15K|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	15					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAAGACGAGGAACTTGTCAA	0.537																																						uc021veh.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(43-45)Gaa>Aaa		Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.							97.0	94.0	95.0					2																	18112318		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112318G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.43G>A	2.37:g.18112318G>A	ENSP00000385968:p.Glu15Lys					KCNS3_uc002rcv.3_Missense_Mutation_p.E15K|KCNS3_uc002rcw.3_Missense_Mutation_p.E15K	p.E15K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			0	43	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		15					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.43G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983486	0.53827	.	.	ENSG00000170745	ENST00000403915;ENST00000304101;ENST00000419802	T;T;T	0.78003	0.87;0.87;-1.14	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);	0.207711	0.49916	D	0.000131	T	0.69940	0.3167	L	0.41079	1.255	0.49915	D	0.999839	P	0.39480	0.675	B	0.31614	0.133	T	0.70930	-0.4738	10	0.39692	T	0.17	.	19.7787	0.96409	0.0:0.0:1.0:0.0	.	15	Q9BQ31	KCNS3_HUMAN	K	15	ENSP00000385968:E15K;ENSP00000305824:E15K;ENSP00000400098:E15K	ENSP00000305824:E15K	E	+	1	0	KCNS3	17975799	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.675000	0.84002	2.671000	0.90904	0.558000	0.71614	GAA		0.537	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252	
APOB	338	broad.mit.edu	37	2	21227512	21227512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:21227512C>T	ENST00000233242.1	-	27	11951	c.11824G>A	c.(11824-11826)Gcc>Acc	p.A3942T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3942					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTAGAGGCTAACGTACCA	0.358																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11824-11826)Gcc>Acc		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						169.0	159.0	163.0					2																	21227512		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21227512C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11824G>A	2.37:g.21227512C>T	ENSP00000233242:p.Ala3942Thr						p.A3942T	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11952	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3942					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11824G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751948	0.31046	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.17854	2.25	5.99	1.87	0.25490	.	0.603999	0.15325	N	0.268335	T	0.03827	0.0108	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41124	-0.9526	10	0.09338	T	0.73	.	3.1533	0.06495	0.1856:0.4703:0.0:0.3441	.	3942	P04114	APOB_HUMAN	T	3942	ENSP00000233242:A3942T	ENSP00000233242:A3942T	A	-	1	0	APOB	21081017	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.090000	0.11163	0.292000	0.22492	-0.137000	0.14449	GCC		0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
GPD2	2820	broad.mit.edu	37	2	157407115	157407115	+	Splice_Site	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:157407115G>A	ENST00000310454.6	+	8	1200	c.828G>A	c.(826-828)ggG>ggA	p.G276G	GPD2_ENST00000438166.2_Splice_Site_p.G276G|GPD2_ENST00000409125.4_Splice_Site_p.G49G|GPD2_ENST00000540309.1_Splice_Site_p.G276G|GPD2_ENST00000409674.1_Splice_Site_p.G276G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	276					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTTTCACAGGGCAGGAATTTG	0.438																																						uc002tzf.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.e8-1		Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							126.0	107.0	113.0					2																	157407115		2203	4300	6503	SO:0001630	splice_region_variant	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157407115G>A		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.827-1G>A	2.37:g.157407115G>A						GPD2_uc010zch.2_Splice_Site_p.G49_splice|GPD2_uc002tzd.4_Splice_Site_p.G276_splice|GPD2_uc002tze.1_Splice_Site	p.G276_splice	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			8	1187	+			276					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	c.827_splice	CCDS2202.1																																																																																				0.438	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		Silent
NYAP2	57624	broad.mit.edu	37	2	226447519	226447519	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:226447519G>A	ENST00000272907.6	+	4	1799	c.1386G>A	c.(1384-1386)tcG>tcA	p.S462S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	462	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTGTGCATTCGGGCAGCCTCT	0.622																																						uc002voe.2																			0											c.(1384-1386)tcG>tcA		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							45.0	49.0	48.0					2																	226447519		2031	4189	6220	SO:0001819	synonymous_variant	57624							g.chr2:226447519G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1386G>A	2.37:g.226447519G>A						NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.S232S	p.S462S	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	1561	+			462			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1386G>A	CCDS46529.1																																																																																				0.622	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
UGT1A7	54577	broad.mit.edu	37	2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	241					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGTCACGGCATATGATCT	0.413																																						uc002vut.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(721-723)Gca>Aca		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						202.0	212.0	208.0					2																	234591304		2203	4300	6503	SO:0001583	missense	54577				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234591304G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.721G>A	2.37:g.234591304G>A	ENSP00000362525:p.Ala241Thr					UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.A241T	p.A241T	NM_019077	NP_061950	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	721	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	244					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.721G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835794	0.32421	.	.	ENSG00000244122	ENST00000373426	T	0.06371	3.31	4.16	-3.33	0.04958	.	.	.	.	.	T	0.04048	0.0113	L	0.31578	0.945	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.7841	0.03038	0.171:0.3672:0.238:0.2239	.	241;241	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	T	241	ENSP00000362525:A241T	ENSP00000362525:A241T	A	+	1	0	UGT1A7	234256043	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.710000	0.00818	-0.390000	0.07774	0.485000	0.47835	GCA		0.413	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077	
COL6A3	1293	broad.mit.edu	37	2	238275630	238275630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:238275630C>A	ENST00000295550.4	-	11	5652	c.5200G>T	c.(5200-5202)Gag>Tag	p.E1734*	COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E1533*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.E1528*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.E1528*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.E1127*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E1534*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1734	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTGCCTCAGGCACAAAG	0.572																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5200-5202)Gag>Tag		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							61.0	57.0	59.0					2																	238275630		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275630C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5200G>T	2.37:g.238275630C>A	ENSP00000295550:p.Glu1734*					COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127*	p.E1734*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5485	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1734			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.5200G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	41	9.013003	0.99037	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.56	5.56	0.83823	.	0.222293	0.31177	N	0.008102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	.	.	.	X	1734;1533;1528;1127;1528;1534	.	ENSP00000295550:E1734X	E	-	1	0	COL6A3	237940369	0.093000	0.21703	0.940000	0.37924	0.085000	0.17905	2.013000	0.40942	2.604000	0.88044	0.650000	0.86243	GAG		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A	rs368872232		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			1	Substitution - Missense(1)	p.V285M(2)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(853-855)Gtg>Atg		Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.							195.0	203.0	200.0					20																	23016973		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016973G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.853G>A	20.37:g.23016973G>A	ENSP00000255008:p.Val285Met						p.V285M	NM_001052	NP_001043	P31391	SSR4_HUMAN			0	917	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		285					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.853G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	2.403	-0.337113	0.05278	.	.	ENSG00000132671	ENST00000255008	T	0.72167	-0.63	3.36	-0.825	0.10809	GPCR, rhodopsin-like superfamily (1);	0.372260	0.21521	U	0.073207	T	0.48786	0.1519	N	0.25789	0.76	0.18873	N	0.999988	B	0.27498	0.18	B	0.26202	0.067	T	0.27938	-1.0059	10	0.34782	T	0.22	.	4.4573	0.11649	0.4609:0.2801:0.259:0.0	.	285	P31391	SSR4_HUMAN	M	285	ENSP00000255008:V285M	ENSP00000255008:V285M	V	+	1	0	SSTR4	22964973	0.893000	0.30496	0.193000	0.23327	0.330000	0.28571	-0.061000	0.11693	-0.109000	0.12044	-0.119000	0.15052	GTG		0.552	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1		
CLDN14	23562	broad.mit.edu	37	21	37833888	37833888	+	Missense_Mutation	SNP	C	C	T	rs142205038		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr21:37833888C>T	ENST00000399137.1	-	3	972	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CLDN14_ENST00000399139.1_Missense_Mutation_p.V36M|CLDN14_ENST00000399135.1_Missense_Mutation_p.V36M|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.V36M|CLDN14_ENST00000342108.2_Missense_Mutation_p.V36M|AP000695.4_ENST00000428667.1_RNA|AP000695.4_ENST00000454980.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	36					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						TTGGTGCCCACGTGCGCTGTC	0.622																																						uc021wja.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(106-108)Gtg>Atg		Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	40.0	28.0	32.0		106,106,106,106,106	3.7	1.0	21	dbSNP_134	32	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CLDN14	NM_001146077.1,NM_001146078.1,NM_001146079.1,NM_012130.2,NM_144492.2	21,21,21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	36/240,36/240,36/240,36/240,36/240	37833888	1,13005	2203	4300	6503	SO:0001583	missense	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833888C>T	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.106G>A	21.37:g.37833888C>T	ENSP00000382090:p.Val36Met					CLDN14_uc002yvn.1_Missense_Mutation_p.V36M|CLDN14_uc002yvo.1_Missense_Mutation_p.V36M|CLDN14_uc002yvk.1_Missense_Mutation_p.V36M|CLDN14_uc002yvl.1_Missense_Mutation_p.V36M|CLDN14_uc002yvm.1_Missense_Mutation_p.V36M	p.V36M	NM_144492	NP_652763	O95500	CLD14_HUMAN			0	106	-			36						Missense_Mutation	SNP	ENST00000399137.1	37	c.106G>A	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012458	0.35511	0.0	1.16E-4	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	5.54	3.7	0.42460	.	0.079672	0.48767	D	0.000169	D	0.92987	0.7768	M	0.76433	2.335	0.42950	D	0.994375	D	0.89917	1.0	D	0.72625	0.978	D	0.93200	0.6591	10	0.72032	D	0.01	.	10.8384	0.46700	0.1296:0.8019:0.0:0.0685	.	36	O95500	CLD14_HUMAN	M	36	ENSP00000382092:V36M;ENSP00000382090:V36M;ENSP00000382087:V36M;ENSP00000382088:V36M;ENSP00000339292:V36M	ENSP00000339292:V36M	V	-	1	0	CLDN14	36755758	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	2.518000	0.45537	1.305000	0.44909	-0.182000	0.12963	GTG		0.622	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492	
CDCP1	64866	broad.mit.edu	37	3	45132920	45132920	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:45132920C>T	ENST00000296129.1	-	7	1872	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	580						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTCTGGGCACGCTGATGTTC	0.607																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1738-1740)Gtg>Atg		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							24.0	24.0	24.0					3																	45132920		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132920C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1738G>A	3.37:g.45132920C>T	ENSP00000296129:p.Val580Met						p.V580M	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	6	1873	-			580					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.1738G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689321	0.68271	.	.	ENSG00000163814	ENST00000296129	T	0.34275	1.37	5.84	5.84	0.93424	.	0.164261	0.53938	D	0.000053	T	0.46776	0.1410	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	P	0.54460	0.753	T	0.22138	-1.0225	10	0.30078	T	0.28	.	13.3638	0.60671	0.0:0.9284:0.0:0.0716	.	580	Q9H5V8	CDCP1_HUMAN	M	580	ENSP00000296129:V580M	ENSP00000296129:V580M	V	-	1	0	CDCP1	45107924	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	3.791000	0.55469	2.767000	0.95098	0.555000	0.69702	GTG		0.607	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842	
GSK3B	2932	broad.mit.edu	37	3	119812236	119812236	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:119812236G>C	ENST00000264235.8	-	1	1028	c.46C>G	c.(46-48)Ccg>Gcg	p.P16A	GSK3B_ENST00000316626.5_Missense_Mutation_p.P16A|RP11-18H7.1_ENST00000469070.1_lincRNA	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	16					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGCTGCACCGGCTTGCAGCTC	0.483																																						uc003edo.3																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(46-48)Ccg>Gcg		Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	Lithium(DB01356)						98.0	104.0	102.0					3																	119812236		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119812236G>C	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.46C>G	3.37:g.119812236G>C	ENSP00000264235:p.Pro16Ala					GSK3B_uc003edn.3_Missense_Mutation_p.P16A|BC035247_uc003edp.3_5'Flank	p.P16A	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	0	1029	-			16					D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.46C>G	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809349	0.31961	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.58506	0.33;0.38	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.42245	1.32	0.53688	D	0.999976	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.42310	-0.9459	9	.	.	.	-6.2625	15.0088	0.71533	0.0:0.0:1.0:0.0	.	16;16	P49841;P49841-2	GSK3B_HUMAN;.	A	16	ENSP00000264235:P16A;ENSP00000324806:P16A	.	P	-	1	0	GSK3B	121294926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.846000	0.92159	2.118000	0.64928	0.551000	0.68910	CCG		0.483	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		
WFS1	7466	broad.mit.edu	37	4	6302612	6302612	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:6302612G>A	ENST00000226760.1	+	8	1260	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	WFS1_ENST00000503569.1_Missense_Mutation_p.V364M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	364					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CACCCTCAAGGTGTTCCAGGA	0.572																																						uc003giy.3																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1090-1092)Gtg>Atg		Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.							285.0	215.0	238.0					4																	6302612		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302612G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1090G>A	4.37:g.6302612G>A	ENSP00000226760:p.Val364Met					WFS1_uc003gix.3_Missense_Mutation_p.V364M|WFS1_uc003giz.3_Missense_Mutation_p.V182M	p.V364M	NM_001145853	NP_005996	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	7	1256	+			364					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1090G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	7.016	0.557835	0.13436	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90069	-2.61;-2.61	4.84	3.99	0.46301	.	0.227351	0.36972	N	0.002304	D	0.82912	0.5140	L	0.48362	1.52	0.51012	D	0.999904	B	0.29341	0.242	B	0.26202	0.067	T	0.76323	-0.3001	10	0.12430	T	0.62	-25.7769	12.324	0.55001	0.0827:0.0:0.9173:0.0	.	364	O76024	WFS1_HUMAN	M	364	ENSP00000423337:V364M;ENSP00000226760:V364M	ENSP00000226760:V364M	V	+	1	0	WFS1	6353513	1.000000	0.71417	0.957000	0.39632	0.539000	0.34962	6.052000	0.71080	1.037000	0.40024	-0.299000	0.09455	GTG		0.572	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
TLR6	10333	broad.mit.edu	37	4	38830723	38830723	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:38830723C>T	ENST00000381950.1	-	1	437	c.372G>A	c.(370-372)agG>agA	p.R124R	TLR6_ENST00000436693.2_Silent_p.R124R			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	124					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATCTAAATGCCTGAAACTCA	0.363																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(370-372)agG>agA		Homo sapiens toll-like receptor 6 (TLR6), mRNA.							62.0	61.0	61.0					4																	38830723		2203	4300	6503	SO:0001819	synonymous_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830723C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.372G>A	4.37:g.38830723C>T						TLR6_uc003gtm.3_Silent_p.R124R	p.R124R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	493	-			124					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	c.372G>A	CCDS3446.1																																																																																				0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
PDGFRA	5156	broad.mit.edu	37	4	55155241	55155241	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:55155241G>C	ENST00000257290.5	+	21	3171	c.2840G>C	c.(2839-2841)aGt>aCt	p.S947T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S707T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	947	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TACCACCTGAGTGAGATTGTG	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2839-2841)aGt>aCt		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						163.0	155.0	158.0					4																	55155241		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55155241G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2840G>C	4.37:g.55155241G>C	ENSP00000257290:p.Ser947Thr	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Missense_Mutation_p.S707T	p.S947T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		20	3171	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		947			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2840G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593428	0.66219	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.88818	-2.43;-2.43	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37304	U	0.002145	D	0.88179	0.6367	L	0.29908	0.895	0.80722	D	1	P	0.36683	0.565	P	0.45449	0.481	D	0.85413	0.1138	10	0.34782	T	0.22	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	947	P16234	PGFRA_HUMAN	T	707;947	ENSP00000423325:S707T;ENSP00000257290:S947T	ENSP00000423325:S707T	S	+	2	0	FIP1L1;PDGFRA	54849998	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	4.331000	0.59273	2.885000	0.99019	0.655000	0.94253	AGT		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDCL2	132954	broad.mit.edu	37	4	56435994	56435994	+	Missense_Mutation	SNP	T	T	C	rs200093988		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:56435994T>C	ENST00000295645.4	-	4	355	c.253A>G	c.(253-255)Aaa>Gaa	p.K85E		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	85										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTTGTTTTTTCTTAAGAGCT	0.289													T|||	1	0.000199681	0.0	0.0	5008	,	,		15667	0.001		0.0	False		,,,				2504	0.0					uc003hbb.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(253-255)Aaa>Gaa		Homo sapiens phosducin-like 2 (PDCL2), mRNA.							63.0	51.0	55.0					4																	56435994		1782	4027	5809	SO:0001583	missense	132954							g.chr4:56435994T>C	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.253A>G	4.37:g.56435994T>C	ENSP00000295645:p.Lys85Glu						p.K85E	NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		3	356	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		85					A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.253A>G	CCDS47059.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	2.134	-0.398319	0.04865	.	.	ENSG00000163440	ENST00000295645	T	0.46819	0.86	5.55	3.1	0.35709	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.267000	0.32314	N	0.006267	T	0.30759	0.0775	L	0.28556	0.865	0.29023	N	0.886161	B	0.06786	0.001	B	0.11329	0.006	T	0.22941	-1.0202	10	0.12103	T	0.63	-17.4027	9.3203	0.37959	0.0:0.1516:0.0:0.8484	.	85	Q8N4E4	PDCL2_HUMAN	E	85	ENSP00000295645:K85E	ENSP00000295645:K85E	K	-	1	0	PDCL2	56130751	1.000000	0.71417	0.998000	0.56505	0.836000	0.47400	3.240000	0.51368	0.384000	0.24942	-0.250000	0.11733	AAA		0.289	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401	
PPBP	5473	broad.mit.edu	37	4	74853312	74853312	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:74853312G>T	ENST00000296028.3	-	2	299	c.206C>A	c.(205-207)aCc>aAc	p.T69N		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	69					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AATTCCAGAGGTTGTCTTTAT	0.418																																						uc003hhj.3																			0				breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10						c.(205-207)aCc>aAc		Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.							125.0	116.0	119.0					4																	74853312		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853312G>T	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.206C>A	4.37:g.74853312G>T	ENSP00000296028:p.Thr69Asn						p.T69N	NM_002704	NP_002695	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		1	293	-	Breast(15;0.00136)		69					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.206C>A	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402464	0.42613	.	.	ENSG00000163736	ENST00000296028	T	0.05447	3.44	2.8	-4.38	0.03622	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.978866	0.08359	N	0.958035	T	0.11067	0.0270	L	0.37850	1.14	0.09310	N	1	D	0.63046	0.992	P	0.61800	0.894	T	0.14811	-1.0459	10	0.49607	T	0.09	3.8774	8.257	0.31763	0.8028:0.0:0.1972:0.0	.	69	P02775	CXCL7_HUMAN	N	69	ENSP00000296028:T69N	ENSP00000296028:T69N	T	-	2	0	PPBP	75072176	0.000000	0.05858	0.000000	0.03702	0.533000	0.34776	-1.433000	0.02428	-1.029000	0.03317	0.305000	0.20034	ACC		0.418	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704	
TTC29	83894	broad.mit.edu	37	4	147824706	147824706	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:147824706G>A	ENST00000325106.4	-	6	802	c.576C>T	c.(574-576)taC>taT	p.Y192Y	TTC29_ENST00000513335.1_Silent_p.Y218Y|TTC29_ENST00000398886.4_Silent_p.Y218Y	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	192										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATCTTCCTCGTAGAGAAGAC	0.458																																						uc003ikx.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(652-654)taC>taT		Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.							94.0	91.0	92.0					4																	147824706		1906	4126	6032	SO:0001819	synonymous_variant	83894						binding	g.chr4:147824706G>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.576C>T	4.37:g.147824706G>A						TTC29_uc003ikw.4_Silent_p.Y192Y|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.Y192Y	p.Y218Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			6	904	-	all_hematologic(180;0.151)		192					A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.654C>T	CCDS47141.1																																																																																				0.458	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
WWC2	80014	broad.mit.edu	37	4	184166575	184166576	+	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:184166575_184166576insA	ENST00000403733.3	+	6	808_809	c.609_610insA	c.(610-612)aaafs	p.K204fs	WWC2_ENST00000513834.1_Frame_Shift_Ins_p.K204fs|WWC2_ENST00000378925.3_Frame_Shift_Ins_p.K106fs|WWC2_ENST00000448232.2_Frame_Shift_Ins_p.K204fs|WWC2_ENST00000504005.1_Intron	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	204					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACAGAATTGATAAAAAAATGTC	0.356																																						uc010irx.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(607-612)gataaafs		Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.																																				SO:0001589	frameshift_variant	80014							g.chr4:184166575_184166576insA	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.616dupA	4.37:g.184166582_184166582dupA	ENSP00000384222:p.Lys204fs					WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	p.D203fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	5	791_792	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	203					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Ins	INS	ENST00000403733.3	37	c.609_610insA	CCDS34109.2																																																																																				0.356	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
CDC20B	166979	broad.mit.edu	37	5	54423154	54423154	+	Missense_Mutation	SNP	C	C	T	rs200952851	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:54423154C>T	ENST00000381375.2	-	8	1065	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	CDC20B_ENST00000334206.5_Missense_Mutation_p.R307Q|CDC20B_ENST00000296733.1_Missense_Mutation_p.R307Q|CDC20B_ENST00000322374.6_Missense_Mutation_p.R307Q			Q86Y33	CD20B_HUMAN	cell division cycle 20B	307								p.R307Q(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTCTCAGCCGCTTTTTAGT	0.438													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19603	0.0		0.0	False		,,,				2504	0.001					uc003jpo.2																			1	Substitution - Missense(1)	p.R307Q(2)	large_intestine(1)	kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(919-921)cGg>cAg		Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	99.0	101.0	100.0		920,920,920	-0.0	1.0	5		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CDC20B	NM_001145734.2,NM_001170402.1,NM_152623.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	307/478,307/520,307/516	54423154	1,13005	2203	4300	6503	SO:0001583	missense	166979							g.chr5:54423154C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.920G>A	5.37:g.54423154C>T	ENSP00000370781:p.Arg307Gln					CDC20B_uc003jpn.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.2_Missense_Mutation_p.R307Q	p.R307Q	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		7	1097	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	307					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.920G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956611	0.34565	0.0	1.16E-4	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.56	-0.0407	0.13871	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.395622	0.18070	N	0.152668	T	0.15652	0.0377	N	0.17312	0.475	0.80722	D	1	B;B;B;B	0.26363	0.147;0.014;0.008;0.014	B;B;B;B	0.16722	0.014;0.016;0.007;0.012	T	0.07908	-1.0748	10	0.33141	T	0.24	-29.7981	9.1538	0.36980	0.0:0.528:0.0:0.472	.	307;307;307;307	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	Q	307	ENSP00000335664:R307Q;ENSP00000296733:R307Q;ENSP00000370781:R307Q;ENSP00000315720:R307Q	ENSP00000296733:R307Q	R	-	2	0	CDC20B	54458911	0.041000	0.20044	0.958000	0.39756	0.882000	0.50991	0.217000	0.17603	-0.138000	0.11434	-0.736000	0.03550	CGG		0.438	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	
FAT2	2196	broad.mit.edu	37	5	150947475	150947475	+	Missense_Mutation	SNP	C	C	T	rs377056065		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:150947475C>T	ENST00000261800.5	-	1	1030	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	340					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATAAGGGCCGCTCCCACTC	0.502																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1018-1020)Ggc>Agc		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.		C	SER/GLY	0,4406		0,0,2203	96.0	106.0	103.0		1018	0.2	0.0	5		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT2	NM_001447.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	340/4350	150947475	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947475C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1018G>A	5.37:g.150947475C>T	ENSP00000261800:p.Gly340Ser					FAT2_uc010jhx.1_Missense_Mutation_p.G340S	p.G340S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	1031	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	340					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1018G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848585	0.00563	0.0	1.16E-4	ENSG00000086570	ENST00000261800	T	0.68903	-0.36	5.55	0.233	0.15386	.	0.923878	0.09169	N	0.839209	T	0.26774	0.0655	N	0.01168	-0.975	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27872	-1.0061	10	0.02654	T	1	.	1.5051	0.02484	0.1282:0.2185:0.133:0.5203	.	340	Q9NYQ8	FAT2_HUMAN	S	340	ENSP00000261800:G340S	ENSP00000261800:G340S	G	-	1	0	FAT2	150927668	0.002000	0.14202	0.000000	0.03702	0.342000	0.28953	1.301000	0.33447	-0.177000	0.10690	-0.339000	0.08088	GGC		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
LARP1	23367	broad.mit.edu	37	5	154193504	154193504	+	Missense_Mutation	SNP	G	G	A	rs372005840		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:154193504G>A	ENST00000336314.4	+	19	2932	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1047					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGAGGTGGCGGCGGTGAGGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14046	0.0		0.001	False		,,,				2504	0.0					uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2908-2910)Ggc>Agc		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	70.0	67.0	68.0		2908	-3.3	0.5	5		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARP1	NM_015315.3	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	970/1020	154193504	2,13004	2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154193504G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2908G>A	5.37:g.154193504G>A	ENSP00000336721:p.Gly970Ser					LARP1_uc021ygh.1_Missense_Mutation_p.G842S	p.G970S	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		18	2932	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1047					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2908G>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.771524	0.00645	2.27E-4	1.16E-4	ENSG00000155506	ENST00000336314	T	0.21031	2.03	3.71	-3.29	0.05017	.	0.313898	0.31010	N	0.008434	T	0.06781	0.0173	N	0.08118	0	0.25051	N	0.991139	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.38757	-0.9646	10	0.02654	T	1	-1.0319	9.8656	0.41140	0.3875:0.0:0.6125:0.0	.	1047;970	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	S	970	ENSP00000336721:G970S	ENSP00000336721:G970S	G	+	1	0	LARP1	154173697	0.080000	0.21391	0.548000	0.28192	0.263000	0.26337	-1.195000	0.03043	-0.633000	0.05545	-0.339000	0.08088	GGC		0.637	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
EYA4	2070	broad.mit.edu	37	6	133844286	133844286	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr6:133844286T>C	ENST00000367895.5	+	18	2173	c.1709T>C	c.(1708-1710)aTt>aCt	p.I570T	EYA4_ENST00000452339.2_Missense_Mutation_p.I516T|EYA4_ENST00000355167.3_Missense_Mutation_p.I570T|EYA4_ENST00000355286.6_Missense_Mutation_p.I547T|EYA4_ENST00000525849.1_Missense_Mutation_p.I547T|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.I576T|EYA4_ENST00000431403.2_Missense_Mutation_p.I570T|EYA4_ENST00000430974.2_Missense_Mutation_p.I522T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	570					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCTTTCCCCATTGAGAATATT	0.383																																					Melanoma(57;398 1237 3528 4702 7415)	uc011ecs.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1726-1728)aTt>aCt		Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.							121.0	120.0	120.0					6																	133844286		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133844286T>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1709T>C	6.37:g.133844286T>C	ENSP00000356870:p.Ile570Thr					EYA4_uc011ecq.2_Missense_Mutation_p.I516T|EYA4_uc011ecr.2_Missense_Mutation_p.I522T|EYA4_uc003qec.4_Missense_Mutation_p.I570T|EYA4_uc003qed.4_Missense_Mutation_p.I570T|EYA4_uc003qee.4_Missense_Mutation_p.I547T|BC041459_uc003qeg.1_Intron	p.I576T	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	17	2043	+	Colorectal(23;0.221)		570					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1727T>C	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637426	0.87760	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97553	-4.43;-2.89;-3.01;-4.43;-2.99;-4.43;-4.43;-4.43	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.043330	0.85682	D	0.000000	D	0.98375	0.9460	M	0.83118	2.625	0.80722	D	1	D;D;P;P;D;D	0.63046	0.986;0.992;0.907;0.904;0.986;0.986	D;D;D;D;D;D	0.87578	0.995;0.998;0.958;0.966;0.995;0.995	D	0.99737	1.1014	10	0.87932	D	0	-25.0835	16.5602	0.84551	0.0:0.0:0.0:1.0	.	576;522;516;547;570;570	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	T	516;522;570;570;547;576;547;570	ENSP00000395916:I516T;ENSP00000388670:I522T;ENSP00000356870:I570T;ENSP00000347294:I570T;ENSP00000347434:I547T;ENSP00000432770:I576T;ENSP00000433219:I547T;ENSP00000404558:I570T	ENSP00000347294:I570T	I	+	2	0	EYA4	133885979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATT		0.383	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
SDK1	221935	broad.mit.edu	37	7	4050700	4050700	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:4050700C>T	ENST00000404826.2	+	15	2373	c.2234C>T	c.(2233-2235)gCg>gTg	p.A745V	SDK1_ENST00000389531.3_Missense_Mutation_p.A745V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	745	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGTGTGCGCGGTGAATGAA	0.622																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2233-2235)gCg>gTg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							46.0	42.0	43.0					7																	4050700		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4050700C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2234C>T	7.37:g.4050700C>T	ENSP00000385899:p.Ala745Val					SDK1_uc010kso.3_Missense_Mutation_p.A21V	p.A745V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2373	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	745			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2234C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196605	0.79015	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68624	-0.34;-0.34	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.88858	0.6551	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.976	D	0.92736	0.6204	10	0.87932	D	0	.	19.1202	0.93360	0.0:1.0:0.0:0.0	.	745;745	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	V	745	ENSP00000385899:A745V;ENSP00000374182:A745V	ENSP00000374182:A745V	A	+	2	0	SDK1	4017226	1.000000	0.71417	0.662000	0.29724	0.106000	0.19336	7.385000	0.79763	2.504000	0.84457	0.655000	0.94253	GCG		0.622	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:19765216C>T	ENST00000405764.3	-	3	1076	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000405844.1_Missense_Mutation_p.R127Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498																																						uc011jyg.2																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(379-381)cGa>cAa		Homo sapiens transmembrane protein 196 (TMEM196), mRNA.							85.0	75.0	79.0					7																	19765216		2203	4300	6503	SO:0001583	missense	256130					integral to membrane		g.chr7:19765216C>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.380G>A	7.37:g.19765216C>T	ENSP00000384234:p.Arg127Gln					TMEM196_uc003sur.3_Non-coding_Transcript	p.R127Q	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN			2	465	-			133					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.380G>A	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983704	0.93044	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.70506	-0.4853	9	0.87932	D	0	13.2727	19.794	0.96471	0.0:1.0:0.0:0.0	.	127	Q5HYL7-4	.	Q	127;127;59;59;59	.	ENSP00000384234:R127Q	R	-	2	0	TMEM196	19731741	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.678000	0.91216	0.655000	0.94253	CGA		0.498	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774	
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		6	Substitution - Missense(6)	p.R108K(13)|p.V30_R297>G(5)	central_nervous_system(6)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(322-324)aGa>aAa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118.0	119.0	119.0					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	569	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000455089.1_Missense_Mutation_p.E664K|EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|E -> G (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15623594}.|E -> K (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATCTTGAAGGAAACTGAATT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		20	Substitution - Missense(19)|Deletion - Frameshift(1)	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)	lung(15)|upper_aerodigestive_tract(2)|prostate(2)|ovary(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2125-2127)Gaa>Aaa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						88.0	91.0	90.0					7																	55241677		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241677G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2125G>A	7.37:g.55241677G>A	ENSP00000275493:p.Glu709Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	p.E709K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2371	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		709		E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2125G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304179	0.95601	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61859	0.07;0.07;0.07	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.71581	2.175	0.80722	D	1	P;P	0.49862	0.929;0.912	B;P	0.46172	0.283;0.506	T	0.70454	-0.4867	10	0.87932	D	0	.	18.672	0.91514	0.0:0.0:1.0:0.0	.	664;709	Q504U8;P00533	.;EGFR_HUMAN	K	664;579;709;656	ENSP00000415559:E664K;ENSP00000275493:E709K;ENSP00000395243:E656K	ENSP00000275493:E709K	E	+	1	0	EGFR	55209171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.833000	0.99426	2.745000	0.94114	0.563000	0.77884	GAA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55241694	55241694	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241694G>C	ENST00000275493.2	+	18	2319	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	EGFR_ENST00000455089.1_Missense_Mutation_p.K669N|EGFR_ENST00000454757.2_Missense_Mutation_p.K661N|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.K714N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AATTCAAAAAGATCAAAGTGC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.K714N(2)|p.K713F(2)	lung(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2140-2142)aaG>aaC		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						77.0	80.0	79.0					7																	55241694		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241694G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2142G>C	7.37:g.55241694G>C	ENSP00000275493:p.Lys714Asn	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Missense_Mutation_p.K714N|EGFR_uc010kzg.2_Missense_Mutation_p.K669N|EGFR_uc022adn.1_Missense_Mutation_p.K669N|EGFR_uc011kco.2_Missense_Mutation_p.K661N	p.K714N	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2388	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		714			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2142G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454669	0.43634	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82711	-1.64;-1.64;-1.64	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83917	0.5358	N	0.17674	0.51	0.49687	D	0.999812	D;D	0.89917	0.989;1.0	P;D	0.79784	0.598;0.993	D	0.85349	0.1100	10	0.87932	D	0	.	12.0557	0.53533	0.079:0.0:0.921:0.0	.	669;714	Q504U8;P00533	.;EGFR_HUMAN	N	669;584;714;661	ENSP00000415559:K669N;ENSP00000275493:K714N;ENSP00000395243:K661N	ENSP00000275493:K714N	K	+	3	2	EGFR	55209188	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	2.794000	0.47853	2.745000	0.94114	0.563000	0.77884	AAG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ZNF3	7551	broad.mit.edu	37	7	99669056	99669056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:99669056G>A	ENST00000424697.1	-	6	1357	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Nonsense_Mutation_p.Q351*|ZNF3_ENST00000303915.6_Nonsense_Mutation_p.Q351*	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	351				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). {ECO:0000305}.	cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTGAGCTCTGGCTGAAGGCT	0.473																																						uc003uss.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(1072-1074)Cag>Tag		Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.							88.0	94.0	92.0					7																	99669056		2203	4300	6503	SO:0001587	stop_gained	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669056G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1051C>T	7.37:g.99669056G>A	ENSP00000415358:p.Gln351*					ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.3_Nonsense_Mutation_p.Q315*|ZNF3_uc003usr.3_Nonsense_Mutation_p.Q351*|ZNF3_uc003ust.4_Nonsense_Mutation_p.Q351*	p.Q358*			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	1390	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	351	GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).				D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Nonsense_Mutation	SNP	ENST00000424697.1	37	c.1072C>T	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	44	10.565410	0.99428	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	.	.	.	4.75	4.75	0.60458	.	0.000000	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-19.1983	11.336	0.49505	0.0:0.1838:0.8162:0.0	.	.	.	.	X	351	.	ENSP00000299667:Q351X	Q	-	1	0	ZNF3	99506992	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.190000	0.17057	2.648000	0.89879	0.655000	0.94253	CAG		0.473	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715	
SERPINE1	5054	broad.mit.edu	37	7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:100779013G>A	ENST00000223095.4	+	7	1175	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_ENST00000445463.2_Missense_Mutation_p.V325I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	340					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582																																						uc003uxt.3																			1	Substitution - Missense(1)	p.V340I(2)	endometrium(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1018-1020)Gtc>Atc		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						88.0	82.0	84.0					7																	100779013		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779013G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1018G>A	7.37:g.100779013G>A	ENSP00000223095:p.Val340Ile					SERPINE1_uc011kkj.2_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	p.V340I	NM_000602	NP_000593	P05121	PAI1_HUMAN			6	1166	+	Lung NSC(181;0.136)|all_lung(186;0.182)		340					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.1018G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572893	0.65765	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	D;D	0.85411	-1.98;-1.98	5.53	5.53	0.82687	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.85487	0.5708	L	0.46614	1.455	0.80722	D	1	P;P	0.44195	0.793;0.828	B;P	0.48840	0.434;0.592	T	0.83257	-0.0050	10	0.28530	T	0.3	.	16.9514	0.86246	0.0:0.0:1.0:0.0	.	325;340	F8WD53;P05121	.;PAI1_HUMAN	I	340;325;117	ENSP00000223095:V340I;ENSP00000396766:V325I	ENSP00000223095:V340I	V	+	1	0	SERPINE1	100565733	0.998000	0.40836	0.071000	0.20095	0.161000	0.22273	2.733000	0.47360	2.588000	0.87417	0.561000	0.74099	GTC		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602	
RELN	5649	broad.mit.edu	37	7	103205920	103205920	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:103205920C>T	ENST00000428762.1	-	34	5174	c.5015G>A	c.(5014-5016)tGt>tAt	p.C1672Y	RELN_ENST00000343529.5_Missense_Mutation_p.C1672Y|RELN_ENST00000424685.2_Missense_Mutation_p.C1672Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1672					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGCTTGCTACAGCCCATGCT	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5014-5016)tGt>tAt		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							97.0	85.0	89.0					7																	103205920		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205920C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5015G>A	7.37:g.103205920C>T	ENSP00000392423:p.Cys1672Tyr					RELN_uc022ajq.1_Missense_Mutation_p.C1672Y|RELN_uc010liz.3_Missense_Mutation_p.C1672Y	p.C1672Y	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	5175	-			1672					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5015G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665214	0.88251	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.31769	1.48;1.48;1.48	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	M	0.84585	2.705	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.81914	0.995;0.988	T	0.65401	-0.6177	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1672;1672	P78509-2;P78509	.;RELN_HUMAN	Y	1672	ENSP00000392423:C1672Y;ENSP00000345694:C1672Y;ENSP00000388446:C1672Y	ENSP00000345694:C1672Y	C	-	2	0	RELN	102993156	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.280000	0.78610	2.941000	0.99782	0.655000	0.94253	TGT		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
NRCAM	4897	broad.mit.edu	37	7	107824688	107824688	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:107824688C>A	ENST00000425651.2	-	19	2300	c.2301G>T	c.(2299-2301)tgG>tgT	p.W767C	NRCAM_ENST00000379028.3_Missense_Mutation_p.W767C|NRCAM_ENST00000379024.4_Missense_Mutation_p.W748C|NRCAM_ENST00000379022.4_Missense_Mutation_p.W767C|NRCAM_ENST00000351718.4_Missense_Mutation_p.W751C|NRCAM_ENST00000413765.2_Missense_Mutation_p.W748C	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	767	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCTCACCTTCCACGTAATCA	0.368																																						uc022aka.1																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2299-2301)tgG>tgT		Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.							83.0	71.0	75.0					7																	107824688		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107824688C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2301G>T	7.37:g.107824688C>A	ENSP00000401244:p.Trp767Cys					NRCAM_uc011kmk.2_Missense_Mutation_p.W767C|NRCAM_uc003vfd.3_Missense_Mutation_p.W748C|NRCAM_uc003vfe.3_Missense_Mutation_p.W748C|NRCAM_uc003vfc.3_Missense_Mutation_p.W751C	p.W767C	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			18	2407	-			767			Fibronectin type-III 2.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2301G>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247751	0.80024	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.96364	0.9268	10	0.87932	D	0	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	767;748;748;751;767	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	C	767;767;748;767;751;748;767;767;751	ENSP00000368314:W767C;ENSP00000407858:W748C;ENSP00000325269:W751C;ENSP00000368310:W748C;ENSP00000401244:W767C;ENSP00000368308:W767C	ENSP00000325269:W751C	W	-	3	0	NRCAM	107611924	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.548000	0.85928	0.591000	0.81541	TGG		0.368	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
FAM71F1	84691	broad.mit.edu	37	7	128355633	128355633	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:128355633G>A	ENST00000315184.5	+	1	191	c.138G>A	c.(136-138)ccG>ccA	p.P46P	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	46										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATGGAGAGCCGAACCCTGGAG	0.522																																						uc003vno.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(136-138)ccG>ccA		Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.							75.0	83.0	80.0					7																	128355633		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128355633G>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.138G>A	7.37:g.128355633G>A						FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P46P	p.P46P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			0	191	+			46					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.138G>A	CCDS5804.1																																																																																				0.522	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599	
UBE3C	9690	broad.mit.edu	37	7	157041143	157041143	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:157041143G>A	ENST00000348165.5	+	19	2923	c.2563G>A	c.(2563-2565)Gac>Aac	p.D855N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	855	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGCCGACGTGGACATTCACCA	0.502																																						uc010lqs.3																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2563-2565)Gac>Aac		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.							140.0	139.0	139.0					7																	157041143		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041143G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2563G>A	7.37:g.157041143G>A	ENSP00000309198:p.Asp855Asn					UBE3C_uc003wni.4_Missense_Mutation_p.D218N	p.D855N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	18	2875	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	855			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2563G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486520	0.63962	.	.	ENSG00000009335	ENST00000348165	T	0.42131	0.98	5.74	5.74	0.90152	HECT (4);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	N	0.20685	0.6	0.80722	D	1	B;B	0.31054	0.306;0.154	B;B	0.43575	0.35;0.424	T	0.22626	-1.0211	10	0.29301	T	0.29	.	19.9122	0.97029	0.0:0.0:1.0:0.0	.	855;708	Q15386;B4DHJ9	UBE3C_HUMAN;.	N	855	ENSP00000309198:D855N	ENSP00000309198:D855N	D	+	1	0	UBE3C	156733904	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.360000	0.97119	2.702000	0.92279	0.655000	0.94253	GAC		0.502	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
UBR5	51366	broad.mit.edu	37	8	103289358	103289358	+	Silent	SNP	C	C	T	rs375287861	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:103289358C>T	ENST00000520539.1	-	45	6957	c.6351G>A	c.(6349-6351)cgG>cgA	p.R2117R	UBR5_ENST00000220959.4_Silent_p.R2117R|UBR5_ENST00000521922.1_Silent_p.R2111R	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2117					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.R2117R(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTTTTTTGCCGGTTTTGCA	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			1	Substitution - coding silent(1)	p.R2117R(2)	prostate(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6349-6351)cgG>cgA		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							133.0	127.0	129.0					8																	103289358		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289358C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6351G>A	8.37:g.103289358C>T						UBR5_uc003yks.2_Silent_p.R2117R	p.R2117R	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		44	6806	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2117					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.6351G>A	CCDS34933.1																																																																																				0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
COL14A1	7373	broad.mit.edu	37	8	121267573	121267573	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:121267573G>T	ENST00000297848.3	+	23	3117	c.2847G>T	c.(2845-2847)agG>agT	p.R949S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R949S|COL14A1_ENST00000247781.3_Missense_Mutation_p.R854S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCTATAGGGTTGTTATAG	0.453																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2845-2847)agG>agT		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							135.0	119.0	124.0					8																	121267573		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121267573G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2847G>T	8.37:g.121267573G>T	ENSP00000297848:p.Arg949Ser					COL14A1_uc003yoy.3_Missense_Mutation_p.R627S	p.R949S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		22	3112	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		949			Fibronectin type-III 8.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2847G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519806	0.27211	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.49	-1.1	0.09872	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.71206	2.165	0.80722	D	1	D;P	0.89917	1.0;0.698	D;P	0.74023	0.982;0.451	T	0.64719	-0.6341	10	0.56958	D	0.05	.	11.898	0.52667	0.5624:0.0:0.4376:0.0	.	949;949	Q05707-2;Q05707	.;COEA1_HUMAN	S	949;949;854;762	ENSP00000311809:R949S;ENSP00000297848:R949S;ENSP00000247781:R854S;ENSP00000409461:R762S	ENSP00000247781:R854S	R	+	3	2	COL14A1	121336754	0.253000	0.23982	0.010000	0.14722	0.080000	0.17528	0.439000	0.21575	-0.453000	0.07076	-1.030000	0.02411	AGG		0.453	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
IFNE	338376	broad.mit.edu	37	9	21481272	21481272	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr9:21481272C>T	ENST00000448696.3	-	1	1040	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	141					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						AACTTGTAATCTAAGGTTATC	0.433																																						uc003zpg.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(421-423)aGa>aAa		Homo sapiens interferon, epsilon (IFNE), mRNA.							197.0	189.0	191.0					9																	21481272		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481272C>T	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.422G>A	9.37:g.21481272C>T	ENSP00000418018:p.Arg141Lys					MIR31HG_uc003zpe.2_Intron	p.R141K	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN			0	1041	-			141						Missense_Mutation	SNP	ENST00000448696.3	37	c.422G>A	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.588990	0.00864	.	.	ENSG00000184995	ENST00000448696	T	0.03181	4.02	4.93	4.04	0.47022	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.138088	0.28420	U	0.015412	T	0.05823	0.0152	L	0.48935	1.535	0.09310	N	1	B	0.32862	0.387	B	0.36608	0.229	T	0.19484	-1.0304	10	0.56958	D	0.05	.	13.1056	0.59246	0.0:0.8387:0.1613:0.0	.	141	Q86WN2	IFNE_HUMAN	K	141	ENSP00000418018:R141K	ENSP00000418018:R141K	R	-	2	0	IFNE	21471272	0.001000	0.12720	0.009000	0.14445	0.038000	0.13279	0.188000	0.17018	1.444000	0.47605	-0.127000	0.14921	AGA		0.433	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891	
IL3RA	3563	broad.mit.edu	37	X	1484071	1484071	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:1484071C>T	ENST00000331035.4	+	9	1149	c.800C>T	c.(799-801)aCg>aTg	p.T267M	IL3RA_ENST00000381469.2_Missense_Mutation_p.T189M	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	267					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATCCTGGAACGTACACAGTA	0.542																																						uc004cps.3																			0				lung(1)|skin(2)	3						c.(799-801)aCg>aTg		Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	Sargramostim(DB00020)	C	MET/THR	0,4400		0,0,2200	89.0	101.0	97.0		800	-0.7	0.0	X		97	1,8583		0,1,4291	yes	missense	IL3RA	NM_002183.2	81	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign	267/379	1484071	1,12983	2200	4292	6492	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484071C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.800C>T	X.37:g.1484071C>T	ENSP00000327890:p.Thr267Met					CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.T189M	p.T267M	NM_002183	NP_002174	P26951	IL3RA_HUMAN			8	1149	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	267					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.800C>T	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.271554	0.23221	0.0	1.16E-4	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.96041	-2.14;-3.89	0.355	-0.71	0.11234	Fibronectin, type III (1);Immunoglobulin-like fold (1);	13.343100	0.02288	U	0.070029	D	0.94450	0.8214	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.997;0.999	P;P	0.59487	0.858;0.801	D	0.84662	0.0707	9	0.56958	D	0.05	-8.7709	.	.	.	.	188;267	P26951-2;P26951	.;IL3RA_HUMAN	M	267;189	ENSP00000327890:T267M;ENSP00000370878:T189M	ENSP00000327890:T267M	T	+	2	0	IL3RA	1444071	0.000000	0.05858	0.006000	0.13384	0.487000	0.33371	-1.029000	0.03585	-0.885000	0.03971	0.081000	0.15443	ACG		0.542	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3		
STS	412	broad.mit.edu	37	X	7177573	7177573	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:7177573G>A	ENST00000217961.4	+	5	801	c.581G>A	c.(580-582)gGg>gAg	p.G194E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	194					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CAGATCGTCGGGGTCACCCTC	0.567									Ichthyosis																													uc004cry.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(580-582)gGg>gAg		Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	Estrone(DB00655)						98.0	68.0	78.0					X																	7177573		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177573G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.581G>A	X.37:g.7177573G>A	ENSP00000217961:p.Gly194Glu						p.G194E	NM_000351	NP_000342	P08842	STS_HUMAN			4	826	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	194					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.581G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265501	0.40095	.	.	ENSG00000101846	ENST00000217961	D	0.93366	-3.21	3.84	0.75	0.18387	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.543954	0.17462	N	0.173407	D	0.92453	0.7604	L	0.40543	1.245	0.09310	N	1	D	0.59767	0.986	P	0.54372	0.75	D	0.86708	0.1934	10	0.62326	D	0.03	.	13.4115	0.60946	0.0:0.4817:0.5183:0.0	.	194	P08842	STS_HUMAN	E	194	ENSP00000217961:G194E	ENSP00000217961:G194E	G	+	2	0	STS	7187573	0.344000	0.24827	0.001000	0.08648	0.126000	0.20510	2.389000	0.44407	0.065000	0.16485	0.544000	0.68410	GGG		0.567	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351	
SATL1	340562	broad.mit.edu	37	X	84349151	84349151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:84349151delA	ENST00000395409.3	-	4	1858	c.1298delT	c.(1297-1299)gtcfs	p.V433fs	SATL1_ENST00000332921.5_Frame_Shift_Del_p.V433fs|SATL1_ENST00000509231.1_Frame_Shift_Del_p.V620fs			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	433	Acetyl-CoA binding. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCTTGTGTGACATAAAAGTC	0.338																																						uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1858-1860)gtcfs		Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							105.0	89.0	95.0					X																	84349151		2203	4300	6503	SO:0001589	frameshift_variant	340562						N-acetyltransferase activity	g.chrX:84349151delA	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1298delT	X.37:g.84349151delA	ENSP00000378804:p.Val433fs						p.V620fs	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN			3	1859	-			433					A0AVK7|E9PB72|Q5H8V9	Frame_Shift_Del	DEL	ENST00000395409.3	37	c.1859delT																																																																																					0.338	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
